All transcript variants in gene MTMR14

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_001077525.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 16 c.1385A>G - r.(?) p.(Tyr462Cys) g.9730718A>G g.9689034A>G - - MTMR14_000002 - PubMed: Tosch 2006, OMIM:var0002 - - De novo - - - 0 - Johan den Dunnen
-/. 16 c.1385A>G benign r.(?) p.(Tyr462Cys) g.9730718A>G - - - MTMR14_000002 - PubMed: Tosch 2006 - - Germline - 1/700 - 0 - Johan den Dunnen
-?/. 16 c.1385A>G likely benign r.(?) p.(Tyr462Cys) g.9730718A>G - - - MTMR14_000002 expression cloning; COS-1 cells normal localisation, phosphatase activity 80% PubMed: Tosch 2006, OMIM:var0002 - - In vitro (cloned) - - - 0 - Johan den Dunnen
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